Neonatal or paediatric intensive care unit admission with a likely monogenic disease


« Back to Disease List

Inclusion Criteria

  • The proband is <18 years old and is currently admitted to neonatal or paediatric intensive care, AND
  •  A monogenic disease is considered likely following assessment by a consultant experienced in genetic diagnostics for the relevant phenotype, AND
  • The underlying cause is not known, AND
  • Given frequent unavailability of DNA for genetic testing in ICU patients due to the frequent use of blood products & high mortality, units should introduce DNA storage at admission to ICU as standard practice

Exclusion Criteria

  • Reasons for admission unlikely have a monogenic cause including: isolated prematurity; isolated intrauterine growth retardation of likely placental aetiology; trauma; admission following a surgical procedure for a disorder unlikely to have a monogenic cause.
  • Participants with disorders already covered by a 100,000 Genomes Project rare disease would typically be expected to fulfil the relevant disease category. For example, a child with congenital heart disease would only be recruited if there was a positive family history, parental consanguinity or syndromic features.

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Where rapid aneuploidy testing and/or detailed chromosome testing (e.g. microarray) is indicated, this should be completed PRIOR TO RECRUITMENT. Further genetic testing in line with current local practice should be considered in parallel with recruitment but is NOT required prior to recruitment.

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

« Back to Disease List